autosomal recessive cutis laxa type IIB

info · Skin · ICD-10: Q82.8

A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.

Signs and symptoms

Dermal translucency
Prominent forehead
Large fontanelles
Pes planus
Microcephaly
Joint hypermobility
Global developmental delay
Microdontia
Excessive wrinkled skin
Premature sagging cheeks

Also known as: ARCL2, progeroid type; ARCL2B